Variant report

Variant	rs12894364
Chromosome Location	chr14:38058065-38058066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37868199..37870734-chr14:38056121..38058989,2	MCF-7	breast:
2	chr14:38056746..38059083-chr14:38363861..38366801,2	MCF-7	breast:
3	chr14:38055708..38063394-chr14:38063498..38068319,8	K562	blood:
4	chr14:37749616..37751782-chr14:38055400..38058293,2	MCF-7	breast:
5	chr14:38049811..38051883-chr14:38056230..38058824,2	K562	blood:
6	chr14:37703862..37705867-chr14:38056619..38058843,2	MCF-7	breast:
7	chr14:37996356..38000397-chr14:38056446..38059493,3	MCF-7	breast:
8	chr14:38013523..38020726-chr14:38055776..38060374,10	MCF-7	breast:
9	chr14:38055921..38058875-chr14:38061516..38064509,2	K562	blood:
10	chr14:38055655..38059490-chr14:38342768..38346428,4	MCF-7	breast:
11	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
12	chr14:38056756..38058941-chr20:52239750..52241770,2	MCF-7	breast:
13	chr14:37697987..37700834-chr14:38057234..38059879,2	MCF-7	breast:
14	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
15	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
16	chr14:37811526..37813219-chr14:38057927..38059734,2	MCF-7	breast:
17	chr14:38057805..38059842-chr14:38111890..38113627,2	MCF-7	breast:
18	chr14:37732063..37736405-chr14:38055420..38059808,4	MCF-7	breast:
19	chr12:52539263..52541137-chr14:38055892..38058453,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139865	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12879622	1.00[AFR][1000 genomes]
rs1884800	0.95[EUR][1000 genomes]
rs1884801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145146	0.85[CEU][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs35121590	0.85[EUR][1000 genomes]
rs35204574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35665917	0.87[EUR][1000 genomes]
rs61987969	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901644	chr14:38049107-38064738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv901645	chr14:38051035-38064215	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv901647	chr14:38052110-38064738	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv901648	chr14:38052110-38065813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv901649	chr14:38053334-38065813	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38053400-38062800	Weak transcription	Hela-S3	cervix
2	chr14:38055800-38058200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
5	chr14:38056600-38058600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:38056600-38058800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr14:38056600-38058800	Bivalent/Poised TSS	Stomach Mucosa	stomach
8	chr14:38056600-38059000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:38056600-38059400	Active TSS	A549	lung
10	chr14:38056800-38058600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr14:38056800-38060000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:38057000-38058200	Bivalent/Poised TSS	Small Intestine	intestine
13	chr14:38057000-38058400	Active TSS	Esophagus	oesophagus
14	chr14:38057000-38058600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:38057000-38065400	Active TSS	Liver	Liver
16	chr14:38057400-38058800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr14:38057600-38058400	ZNF genes & repeats	Lung	lung
18	chr14:38057600-38058600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr14:38057600-38058800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:38057600-38058800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr14:38057600-38058800	Active TSS	Gastric	stomach
22	chr14:38057800-38058200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr14:38057800-38058200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:38057800-38058200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr14:38057800-38058400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:38057800-38058400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:38057800-38058600	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr14:38057800-38058800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:38057800-38058800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr14:38057800-38059600	Active TSS	Colonic Mucosa	Colon
31	chr14:38057800-38060600	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr14:38057800-38060800	Weak transcription	Pancreas	Pancrea
33	chr14:38058000-38058200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr14:38058000-38058200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr14:38058000-38058400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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